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肿瘤学中医生对基因组测序的经验与理解

Physician Experiences and Understanding of Genomic Sequencing in Oncology.

作者信息

Weipert Caroline M, Ryan Kerry A, Everett Jessica N, Yashar Beverly M, Chinnaiyan Arul M, Scott Roberts J, De Vries Raymond, Zikmund-Fisher Brian J, Raymond Victoria M

机构信息

Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.

Center for Bioethics and Social Sciences in Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.

出版信息

J Genet Couns. 2018 Feb;27(1):187-196. doi: 10.1007/s10897-017-0134-3. Epub 2017 Aug 24.

Abstract

The amount of information produced by genomic sequencing is vast, technically complicated, and can be difficult to interpret. Appropriately tailoring genomic information for non-geneticists is an essential next step in the clinical use of genomic sequencing. To initiate development of a framework for genomic results communication, we conducted eighteen qualitative interviews with oncologists who had referred adult cancer patients to a matched tumor-normal tissue genomic sequencing study. In our qualitative analysis, we found varied levels of clinician knowledge relating to sequencing technology, the scope of the tumor genomic sequencing study, and incidental germline findings. Clinicians expressed a perceived need for more genetics education. Additionally, they had a variety of suggestions for improving results reports and possible resources to aid in results interpretation. Most clinicians felt genetic counselors were needed when incidental germline findings were identified. Our research suggests that more consistent genetics education is imperative in ensuring the proper utilization of genomic sequencing in cancer care. Clinician suggestions for results interpretation resources and results report modifications could be used to improve communication. Clinicians' perceived need to involve genetic counselors when incidental germline findings were found suggests genetic specialists could play a critical role in ensuring patients receive appropriate follow-up.

摘要

基因组测序产生的信息量巨大,技术复杂,且难以解读。为非遗传学家恰当地定制基因组信息是基因组测序临床应用中至关重要的下一步。为启动基因组结果沟通框架的开发,我们对将成年癌症患者转诊至一项匹配肿瘤-正常组织基因组测序研究的肿瘤学家进行了18次定性访谈。在我们的定性分析中,我们发现临床医生在测序技术、肿瘤基因组测序研究范围和偶然的种系发现方面的知识水平各不相同。临床医生表示认为需要更多遗传学教育。此外,他们对改进结果报告以及有助于结果解读的可能资源提出了各种建议。大多数临床医生认为在识别出偶然的种系发现时需要遗传咨询师。我们的研究表明,更一致的遗传学教育对于确保基因组测序在癌症护理中的正确应用至关重要。临床医生对结果解读资源和结果报告修改的建议可用于改善沟通。临床医生认为在发现偶然的种系发现时需要遗传咨询师参与,这表明遗传专家在确保患者得到适当随访方面可发挥关键作用。

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Physician Experiences and Understanding of Genomic Sequencing in Oncology.肿瘤学中医生对基因组测序的经验与理解
J Genet Couns. 2018 Feb;27(1):187-196. doi: 10.1007/s10897-017-0134-3. Epub 2017 Aug 24.

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